NM_004369.4(COL6A3):c.3699C>T (p.Asp1233=) AND not provided
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Dec 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000308404.11
Allele description [Variation Report for NM_004369.4(COL6A3):c.3699C>T (p.Asp1233=)]
NM_004369.4(COL6A3):c.3699C>T (p.Asp1233=)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Apr 15, 2024